Publications by authors named "Roshini Nayyar"

Fulminant type 1 diabetes is a relatively new subtype of type 1 diabetes characterised by a sudden onset of severe diabetic ketoacidosis (DKA) in patients with no history of diabetes and can cause imminent death if untreated. We discuss a rare case of a Pacific Islander woman who was 36 weeks pregnant and presented to the emergency department with DKA and fetal death in utero having had a normal glucose tolerance test 4 weeks earlier. She was diagnosed with fulminant type 1 diabetes and was treated with an intravenous insulin-dextrose infusion.

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Introduction: Bruck syndrome is a rare autosomal recessive disease characterized by multiple joint contractures, bone fragility, and fractures. Two genes have been associated with Bruck syndrome, FKBP10 and PLOD2, though they are phenotypically indistinguishable.

Case Presentation: We present a prenatally diagnosed case of Bruck syndrome in a young multiparous woman, with no notable personal, family or obstetric history.

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Background: Fetal heart block (FHB) occurs in approximately 1:20 000 births and is associated with significant morbidity and mortality. Vaginal delivery with intrapartum fetal scalp lactate monitoring is offered as an option at our centre for selected cases, in contrast with the published literature advocating caesarean birth.

Aims: To review perinatal outcomes at delivery for FHB at a tertiary referral hospital.

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Background: Pulmonary arterial hypertension (PAH) is a high-risk condition during pregnancy, with recent literature describing mortality rates of up to 23%.

Aim: To describe the course and outcomes of pregnancy for women with PAH in a major Australian metropolitan referral centre over a 15-year period.

Methods: Retrospective review of medical records of all pregnant women with PAH over the period 2005-2020.

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Glycogen storage disease type IIIa (GSD-IIIa) is an autosomal recessive disorder that impairs glycogenolysis, producing ketotic hypoglycaemia, hepatomegaly, cardiac and skeletal myopathy. During pregnancy, increased metabolic demand requires careful management. There are few case reports about pregnancy in GSD-IIIa, however none detail management during caesarean section.

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Background: Placenta accreta spectrum (PAS) has a high risk of maternal morbidity, and requires meticulous antenatal and peripartum management.

Aims: To compare the management and outcomes of PAS between women with and without antenatally suspected disease, and to evaluate the effect of multidisciplinary team (MDT) management.

Materials And Methods: A retrospective cohort study identified all hysterectomy specimens with a histopathological diagnosis of PAS in the Western Sydney Local Health District between January 2006 and December 2019, and analysed each patient's clinical course.

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Although rare, literature demonstrates evidence that vascular anastomoses do occur in dichorionic twins. Therefore, twin anemia polycythemia sequence should be considered as a differential diagnoses in dichorionic twins if there is suspicion on antenatal ultrasound.

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Uterine scarring increases the risk of uterine rupture during labour, which can result in significant maternal and fetal morbidity and mortality. There is insufficient evidence for a clear recommendation on the safety of vaginal delivery in the context of a patient with both a uterine perforation and a previous lower uterine segment caesarean section. We present the case of a woman with a history of one previous caesarean section and uterine perforation with a uterine manipulator, who subsequently had an uncomplicated normal vaginal delivery.

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Background: Vasa praevia (VP) is a rare obstetric condition in which unprotected fetal vessels transverse the cervix, are vulnerable to rupture during labour and may result in rapid exsanguination of the fetus. Antenatal diagnosis of VP has resulted in excellent outcomes. However, there are little data available on the false positive rates for the antenatal diagnosis of VP.

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Background: Placenta praevia is characterised by an inferior placental margin that overlies or falls within 20 mm of the endocervical os. It remains a common cause of antepartum haemorrhage and is associated with adverse maternal and neonatal outcomes.

Aims: We aimed to determine the association between antepartum and postpartum haemorrhage and adverse outcomes in cases of placenta praevia.

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A 27-year-old woman presented with an enlarging painless right preauricular mass at 28 weeks' pregnant. The mass had been stable for more than 10 years, but showed rapid growth during pregnancy. Imaging and biopsy were consistent with parotid gland malignancy, with surgical resection undertaken at 33+4 weeks' gestation.

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Background: Pregnancies in patients with solid organ transplants have higher rates of complications and caesarean sections (CS).

Aim: To perform an audit of the pregnancy outcomes in transplant recipients, to determine the rate of CS in our cohort, the appropriate skin incision for CS in these patients and to formulate recommendations for preoperative planning.

Materials And Methods: This is a retrospective cohort study.

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Maple syrup urine disease (MSUD) is an autosomal metabolic condition that can cause significant morbidity in pregnant women and their infants. Advances in nutritional management mean more mothers with congenital metabolic disorders are becoming pregnant, and presenting challenges in obstetric care. In particular, the increase in protein requirements during pregnancy and metabolic stress of childbirth require careful planning and caloric titration.

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It is estimated that everyday 7000 women worldwide have their pregnancy end with a stillbirth, however, research and data collection on stillbirth remains underfunded. This stillbirth case series audit investigates an apparent rise in stillbirths at a Sydney tertiary referral hospital in Australia. A retrospective case series of singleton stillbirths from 2005-2010 was conducted at Westmead Hospital.

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Congenital analbuminaemia is a rare autosomal recessive disorder that is characterised by a severe reduction or total absence of serum albumin. This condition has implications for therapeutics as a large proportion of commonly used drugs are plasma protein bound where albumin is the primary component of plasma protein. This is the first case report of pregnancy in a patient with congenital analbuminaemia in the medical literature.

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Placental mesenchymal dysplasia (PMD) is a rare condition characterised by placental enlargement, oedematous villi and multiple anechoic cysts. Hepatic mesenchymal hamartoma (HMH) is a benign proliferation of mesenchymal tissue, commonly seen in infants below the age of 2. We report the case of a 28 years old female who was noted to have a fetus with a well-circumscribed cyst on the liver, suggestive of HMH and a large, thickened placenta, with multiple anechoic cysts, consistent with PMD during the third trimester.

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Background: AV malformation of the vein of Galen, also known as vein of Galen aneurysm, is an intracranial anomaly characterised by a midline, high flow lesion with a complex vascular architecture. It compromises less than 1% of all cerebral arteriovenous malformations seen in adults and children. Timely diagnosis of the malformation is of importance particularly during the perinatal period due to the large systemic shunting within the fetal brain potentially leading to cardiac failure, hydrops and perinatal death.

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